CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Skálová, Daniela ^a,b   Zídková, Jana ^a,b   Voháňka, Stanislav ^a   Mazanec, Radim ^c   Mušová, Zuzana ^c   Vondráček, Petr ^a   Mrázová, Lenka ^a   Kraus, Josef ^c   Réblová, Kamila ^b   Fajkusová, Lenka ^a,b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHLORIDE CHANNEL; CHLORIDE ION; DIMER; SKELETAL MUSCLE CHLORIDE CHANNEL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLCN1 GENE; CLINICAL ARTICLE; COMPUTER MODEL; CZECH; CZECH REPUBLIC; ETHNIC GROUP; FEMALE; FUNCTIONAL ASSESSMENT; GENE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RETROSPECTIVE STUDY; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS; THOMSEN DISEASE;

ADOLESCENT; ADULT; CHLORIDE CHANNELS; CZECH REPUBLIC; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUSCLE, SKELETAL; MUTATION; MUTATION, MISSENSE; MYOTONIA CONGENITA; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; YOUNG ADULT;

EID: 84892403126     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0082549     Document Type: Article

References (50)

1. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ (1994) Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 3: 941-946. doi:10.1093/hmg/3.6.941. PubMed: 7951242.
2. Lehmann-Horn F, Rüdel R (1996) Molecular pathophysiology of voltage-gated ion channels. Rev Physiol Biochem Pharmacol 128: 195-268. PubMed: 8791722.
3. Pusch M (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 19: 423-434. doi:10.1002/humu.10063. PubMed: 11933197.
4. Middleton RE, Pheasant DJ, Miller C (1994) Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax. Biochemistry 33: 13189-13198. doi:10.1021/bi00249a005. PubMed: 7947726.
5. Middleton RE, Pheasant DJ, Miller C (1996) Homodimeric architecture of a ClC-type chloride ion channel. Nature 383: 337-340. doi: 10.1038/383337a0. PubMed: 8848046.
6. Ludewig U, Pusch M, Jentsch TJ (1996) Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature 383: 340-343. doi: 10.1038/383340a0. PubMed: 8848047.
7. Saviane C, Conti F, Pusch M (1999) The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J Gen Physiol 113: 457-468. doi: 10.1085/jgp.113.3.457. PubMed: 10051520.
8. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ (1998) ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 7: 1753-1760. doi:10.1093/hmg/7.11.1753. PubMed: 9736777.
9. Wollnik B, Kubisch C, Steinmeyer K, Pusch M (1997) Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. Hum Mol Genet 6: 805-811. doi:10.1093/hmg/6.5.805. PubMed: 9158157.
10. Weinreich F, Jentsch TJ (2001) Pores formed by single subunits in mixed dimers of different CLC chloride channels. J Biol Chem 276: 2347-2353. doi:10.1074/jbc.M005733200. PubMed: 11035003.
11. Aromataris EC, Rychkov GY, Bennetts B, Hughes BP, Bretag AH et al. (2001) Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations. Mol Pharmacol 60: 200-208. PubMed: 11408615.
12. Duffield M, Rychkov G, Bretag A, Roberts M (2003) Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol 121: 149-161. doi:10.1085/jgp.20028741. PubMed: 12566541.
13. Lossin C, George AL Jr (2008) Myotonia congenita. Adv Genet 63: 25-55. PubMed: 19185184.
14. Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ (2000) Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology 54: 937-942. doi:10.1212/WNL. 54.4.937. PubMed: 10690989.
15. Mindell JA, Maduke M, Miller C, Grigorieff N (2001) Projection structure of a ClC-type chloride channel at 6.5 A resolution. Nature 409: 219-223. doi:10.1038/35051631. PubMed: 11196649.
16. Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z et al. (2002) Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 125: 2392-2407. doi:10.1093/brain/awf246. PubMed: 12390967.
17. Ma L, Rychkov GY, Hughes BP, Bretag AH (2008) Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1. Biochem J 413: 61-69. doi:10.1042/BJ20071489. PubMed: 18321245.
18. Ma L, Rychkov GY, Bretag AH (2009) Functional study of cytoplasmic loops of human skeletal muscle chloride channel, hClC-1. Int J Biochem Cell Biol 41: 1402-1409. doi:10.1016/j.biocel.2008.12.006. PubMed: 19135547.
19. Cederholm JM, Rychkov GY, Bagley CJ, Bretag AH (2010) Intersubunit communication and fast gate integrity are important for common gating in hClC-1. Int J Biochem Cell Biol 42: 1182-1188. doi: 10.1016/j.biocel.2010.04.004. PubMed: 20398785.
20. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R (2002) Xray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415: 287-294. doi:10.1038/415287a. PubMed: 11796999.
21. Feng L, Campbell EB, Hsiung Y, MacKinnon R (2010) Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle. Science 330: 635-641. doi:10.1126/science.1195230. PubMed: 20929736.
22. Roy A, Kucukural A, Zhang Y (2010) I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc 5: 725-738. doi:10.1038/nprot.2010.5. PubMed: 20360767.
23. Humphrey W, Dalke A, Schulten K (1996) VMD: visual molecular dynamics. J Mol Graph 14: 33-38. doi:10.1016/0263-7855(96)00018-5. PubMed: 8744570.
24. Berka K, Hanak O, Sehnal D, Banas P, Navratilova V, et al. (2012) MOLEonline 2.0: interactive web-based analysis of biomacromolecular channels. Nucleic Acids Res 40: W222-W227.
25. Réblová K, Hrubá Z, Procházková D, Pazdírková R, Pouchlá S et al. (2013) Hyperphenylalaninemia in the Czech Republic: Genotypephenotype correlations and in silico analysis of novel missense mutations. Clin Chim Acta 419: 1-10. doi:10.1016/j.cca.2013.01. 006. PubMed: 23357515.
26. Chothia C (1976) The Nature of the Accessible and Buried Surfaces in Proteins. J Mol Biol 105: 1-12. doi:10.1016/0022-2836(76)90191-1. PubMed: 994183.
27. Zamyatnin AA (1972) Protein Volume in Solution. Prog Biophys Mol Biol 24: 107-123. doi:10.1016/0079-6107(72)90005-3. PubMed: 4566650.
28. Bordo D, Argos P (1991) Suggestions for "safe" residue substitutions in site-directed mutagenesis. J Mol Biol 217: 721-729. doi: 10.1016/0022-2836(91)90528-E. PubMed: 2005621.
29. Grantham R (1974) Amino acid difference formula to help explain protein evolution. Science 185: 862-864. doi:10.1126/science. 185.4154.862. PubMed: 4843792.
30. Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E et al. (2012) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J Neurol Sci 318: 65-71. doi: 10.1016/j.jns.2012.03.024. PubMed: 22521272.
31. Gao F, Ma FC, Yuan ZF, Yang CW, Li HF et al. (2010) Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. Neurol India 58: 743-746. doi: 10.4103/0028-3886.72163. PubMed: 21045501.
32. Colding-Jørgensen E, DunØ OM, Schwartz M, Vissing J (2003) Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 27: 449-455. doi:10.1002/mus.10347. PubMed: 12661046.
33. Lehmann-Horn F, Mailänder V, Heine R, George AL (1995) Myotonia levior is a chloride channel disorder. Hum Mol Genet 4: 1397-1402. doi: 10.1093/hmg/4.8.1397. PubMed: 7581380.
34. Pusch M, Steinmeyer K, Koch MC, Jentsch TJ (1995) Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 15: 1455-1463. doi: 10.1016/0896-6273(95)90023-3. PubMed: 8845168.
35. Koty PP, Pegoraro E, Hobson G, Marks HG, Turel A et al. (1996) Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 47: 963-968. doi: 10.1212/WNL.47.4.963. PubMed: 8857727.
36. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC (1995) Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 57: 1325-1334. PubMed: 8533761.
37. Dutzler R, Campbell EB, MacKinnon R (2003) Gating the selectivity filter in ClC chloride channels. Science 300: 108-112. doi:10.1126/science.1082708. PubMed: 12649487.
38. Accardi A, Pusch M (2000) Fast and slow gating relaxations in the muscle chloride channel CLC-1. J Gen Physiol 116: 433-444. doi: 10.1085/jgp.116.3.433. PubMed: 10962018.
39. Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R et al. (2007) Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 130: 3265-3274. doi:10.1093/brain/awm248. PubMed: 17932099.
40. Mazón MJ, Barros F, De la Peña P, Quesada JF, Escudero A et al. (2012) Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscul Disord 22: 231-243. doi:10.1016/j.nmd.2011.10.013. PubMed: 22094069.
41. Burgunder JM, Huifang S, Beguin P, Baur R, Eng CS et al. (2008) Novel chloride channel mutations leading to mild myotonia among Chinese. Neuromuscul Disord 18: 633-640. doi:10.1016/j.nmd.2008.05.007. PubMed: 18579381.
42. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R et al. (1994) Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 3: 2071-2072. PubMed: 7874130.
43. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ (1994) Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J 13: 737-743. PubMed: 8112288.
44. Fahlke C, Beck CL, George AL Jr (1997) A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A 94: 2729-2734. doi: 10.1073/pnas.94.6.2729. PubMed: 9122265.
45. Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP et al. (2012) Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. Neuromolecular Med 14: 328-337. doi:10.1007/s12017-012-8190-1. PubMed: 22790975.
46. Javadpour MM, Eilers M, Groesbeek M, Smith SO (1999) Helix packing in polytopic membrane proteins: Role of glycine in transmembrane helix association. Biophys J 77: 1609-1618. doi:10.1016/S0006-3495(99)77009-8. PubMed: 10465772.
47. Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaya GE, et al. (2012) The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias. Russ J Genet+ 48: 952-961
48. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M (2001) Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet 9: 903-909. doi: 10.1038/sj.ejhg.5200736. PubMed: 11840191.
49. Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JBM et al. (2008) In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 16: 921-929. doi:10.1038/ejhg.2008.39. PubMed: 18337730.
50. Brugnoni R, Kapetis D, Imbrici P, Pessia M, Canioni E et al. (2013) A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet 58: 581-587. doi:10.1038/jhg.2013.58. PubMed: 23739125.